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Cellosaurus FMD patient III.4 LCL (CVCL_E7TW)

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Cell line name FMD patient III.4 LCL
Accession CVCL_E7TW
Resource Identification Initiative To cite this cell line use: FMD patient III.4 LCL (RRID:CVCL_E7TW)
Comments Population: Caucasian; Spanish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3057; DTNA; Simple; p.Val742Phe (c.2224G>T); ClinVar=VCV000140609; Zygosity=Heterozygous; Note=Produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript (PubMed=25305078).
  • Mutation; HGNC; HGNC:25911; FAM136A; Simple; p.Gln76Ter (c.226C>T) (p.Gln183Ter, c.547C>T); ClinVar=VCV000140608; Zygosity=Heterozygous (PubMed=25305078).
Disease Meniere disease (NCIt: C185243)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B5H2 ! GENYOi007-A
Sex of cell Female
Age at sampling >22Y
Category Transformed cell line
Publications

PubMed=25305078; DOI=10.1093/hmg/ddu524; PMCID=PMC4834881
Teresa Requena, Sonia Cabrera, Carmen Martin-Sierra, Steven D. Price, Anna Lysakowski, Jose Antonio Lopez-Escamez;
Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.
Hum. Mol. Genet. 24:1119-1126(2015)

Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1